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Article

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

Genes - 5 Aug 2024

Saidin Akzam, Papazovska Cherepnalkovski Anet, Shaukat Zeeshan, Arsov Todor, Hussain Rashid, Roberts Ben J, Bucat Marija, Cogelja Klara, Ricos Michael G, Dibbens Leanne M

Abstract excerpt

Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker-Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic. Clinical assessment of a...

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PMID: 39202391
DOI: 10.3390/genes15081031
PMCID: PMC11353499

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